{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:26:54Z","timestamp":1791296814744,"version":"4.1.0"},"reference-count":41,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Circ: Genomic and Precision Medicine"],"published-print":{"date-parts":[[2018,6]]},"DOI":"10.1161\/circgen.117.002039","type":"journal-article","created":{"date-parts":[[2018,10,9]],"date-time":"2018-10-09T08:10:09Z","timestamp":1539072609000},"source":"Crossref","is-referenced-by-count":36,"title":["Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the\n            <i>FBN1<\/i>\n            Gene for Marfan Syndrome"],"prefix":"10.1161","volume":"11","author":[{"given":"Laura","family":"Mui\u00f1o-Mosquera","sequence":"first","affiliation":[{"name":"Center for Medical Genetics (L.M.-M., F.S., I.M., A.D.P., W.S., S.S., P.C., B.C., M.R., J.D.B.)"},{"name":"Division of Pediatric Cardiology (L.M.-M.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felke","family":"Steijns","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics (L.M.-M., F.S., I.M., A.D.P., W.S., S.S., P.C., B.C., M.R., J.D.B.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tjorven","family":"Audenaert","sequence":"additional","affiliation":[{"name":"Department of Cardiology (T.A., J.D.B.), Ghent University Hospital, Belgium."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilse","family":"Meerschaut","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics (L.M.-M., F.S., I.M., A.D.P., W.S., S.S., P.C., B.C., M.R., J.D.B.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"De Paepe","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics (L.M.-M., F.S., I.M., A.D.P., W.S., S.S., P.C., B.C., M.R., J.D.B.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wouter","family":"Steyaert","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics (L.M.-M., F.S., I.M., A.D.P., W.S., S.S., P.C., B.C., M.R., J.D.B.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofie","family":"Symoens","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics (L.M.-M., F.S., I.M., A.D.P., W.S., S.S., P.C., B.C., M.R., J.D.B.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Coucke","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics (L.M.-M., F.S., I.M., A.D.P., W.S., S.S., P.C., B.C., M.R., J.D.B.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bert","family":"Callewaert","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics (L.M.-M., F.S., I.M., A.D.P., W.S., S.S., P.C., B.C., M.R., J.D.B.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjolijn","family":"Renard","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics (L.M.-M., F.S., I.M., A.D.P., W.S., S.S., P.C., B.C., M.R., J.D.B.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"De Backer","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics (L.M.-M., F.S., I.M., A.D.P., W.S., S.S., P.C., B.C., M.R., J.D.B.)"},{"name":"Department of Cardiology (T.A., J.D.B.), Ghent University Hospital, Belgium."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.31"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.03.024"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2017.01.001"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-016-0391-z"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.01.004"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.13"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.37"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.14"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMsr1406261"},{"key":"e_1_3_2_12_2","first-page":"Abstract","volume-title":"American Society of Human Genetics","author":"Vincent L","year":"2015"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1086\/341581"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M405239200"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrrev.2015.04.002"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.275.16.12339"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2016.07.033"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072785"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv1222"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.1.308"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_3_2_22_2","unstructured":"Exome Variant Server NHLBI GO Exome Sequencing Project (ESP). http:\/\/evs.gs.washington.edu\/EVS\/."},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3021"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S60472"},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0221-6"},{"key":"e_1_3_2_27_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-med-100415-022956"},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1779-6"},{"key":"e_1_3_2_29_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv1290"},{"key":"e_1_3_2_30_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21438"},{"key":"e_1_3_2_31_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10249"},{"key":"e_1_3_2_32_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_3_2_33_2","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_3_2_34_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_3_2_35_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.033878"},{"key":"e_1_3_2_36_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.185.4154.862"},{"key":"e_1_3_2_37_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp215"},{"key":"e_1_3_2_38_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.5.1185"},{"key":"e_1_3_2_39_2","doi-asserted-by":"publisher","DOI":"10.1089\/cmb.1997.4.311"},{"key":"e_1_3_2_40_2","doi-asserted-by":"publisher","DOI":"10.1089\/1066527041410418"},{"key":"e_1_3_2_41_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.26"},{"key":"e_1_3_2_42_2","doi-asserted-by":"publisher","DOI":"10.1086\/302582"}],"container-title":["Circulation: Genomic and Precision Medicine"],"original-title":[],"language":"en","deposited":{"date-parts":[[2019,4,22]],"date-time":"2019-04-22T19:08:26Z","timestamp":1555960106000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ahajournals.org\/doi\/10.1161\/CIRCGEN.117.002039"}},"subtitle":["Proposal for a Disease- and Gene-Specific Guideline"],"short-title":[],"issued":{"date-parts":[[2018,6]]},"references-count":41,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,6]]}},"alternative-id":["10.1161\/CIRCGEN.117.002039"],"URL":"https:\/\/doi.org\/10.1161\/circgen.117.002039","relation":{},"ISSN":["2574-8300","2574-8300"],"issn-type":[{"value":"2574-8300","type":"print"},{"value":"2574-8300","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,6]]}}}